Literature DB >> 12525555

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.

H Jacquet1, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg.   

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Year:  2003        PMID： 12525555      PMCID： PMC1735267          DOI： 10.1136/jmg.40.1.e7

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

Authors:  Steffi van de Ven; Thatjana Gardeitchik; Dorus Kouwenberg; Leo Kluijtmans; Ron Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2013-10-31       Impact factor: 4.982

2.  PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome.

Authors:  Mariken B de Koning; Esther D A van Duin; Erik Boot; Oswald J N Bloemen; Jaap A Bakker; Kathryn M Abel; Thérèse A M J van Amelsvoort
Journal:  Psychopharmacology (Berl)       Date:  2015-06-12       Impact factor: 4.530

Review 3.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

4.  Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.

Authors:  Catherine L Clelland; Laura L Read; Amanda N Baraldi; Corinne P Bart; Carrie A Pappas; Laura J Panek; Robert H Nadrich; James D Clelland
Journal:  Schizophr Res       Date:  2011-06-08       Impact factor: 4.939

5.  Redox Modulation of Oligomeric State in Proline Utilization A.

Authors:  David A Korasick; Ashley C Campbell; Shelbi L Christgen; Srinivas Chakravarthy; Tommi A White; Donald F Becker; John J Tanner
Journal:  Biophys J       Date:  2018-06-19       Impact factor: 4.033

6.  Functional consequences of PRODH missense mutations.

Authors:  Hans-Ulrich Bender; Shlomo Almashanu; Gary Steel; Chien-An Hu; Wei-Wen Lin; Alecia Willis; Ann Pulver; David Valle
Journal:  Am J Hum Genet       Date:  2005-01-20       Impact factor: 11.025

7.  Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association.

Authors:  James D Clelland; Laura L Read; Valérie Drouet; Angela Kaon; Alexandra Kelly; Karen E Duff; Robert H Nadrich; Amit Rajparia; Catherine L Clelland
Journal:  Schizophr Res       Date:  2014-04-29       Impact factor: 4.939

8.  Drug off-target effects predicted using structural analysis in the context of a metabolic network model.

Authors:  Roger L Chang; Li Xie; Lei Xie; Philip E Bourne; Bernhard Ø Palsson
Journal:  PLoS Comput Biol       Date:  2010-09-23       Impact factor: 4.475

9.  Genetic cause and prevalence of hydroxyprolinemia.

Authors:  Christian Staufner; Tobias B Haack; Patrik Feyh; Gwendolyn Gramer; Deepthi Ediga Raga; Caterina Terrile; Sven Sauer; Jürgen G Okun; Junmin Fang-Hoffmann; Ertan Mayatepek; Holger Prokisch; Georg F Hoffmann; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-05-02       Impact factor: 4.982

10.  Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress.

Authors:  Navasona Krishnan; Martin B Dickman; Donald F Becker
Journal:  Free Radic Biol Med       Date:  2007-11-12       Impact factor: 7.376
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